rs759871071 Rat Genome Database

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Variant: rs759871071 -  Homo sapiens

RGD ID: 13483210
RS ID: rs759871071
ClinVar ID: CV474912
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKN2A  LOC130001603  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 21,974,825
GRCh38 9 21,974,826
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_478104.2:p.Met1Lys
LRG_11t1:c.2T>A
LRG_11:g.24666T>A
NG_007485.1:g.24666T>A
More... 		09/21/2023 initiatior codon variant|initiator_codon_variant|intron variant pathogenic|uncertain significance AllHighlyPenetrant; Cancer predisposition; Hereditary Cancer Syndrome; Hereditary cutaneous melanoma; Hereditary melanoma; Hereditary neoplastic syndrome; Malignant tumor of stomach; Neoplastic Syndromes, Hereditary; none provided; Stomach cancer; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Stomach cancer  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:CDKN2A
Accession:NM_001363763
Location:5UTRS;INTRON

Gene Symbol:CDKN2A
Accession:XM_047422597
Location:5UTRS;INTRON

Gene Symbol:CDKN2A
Accession:NM_058197
Location:EXON

Gene Symbol:CDKN2A
Accession:XM_011517675
Location:EXON

Gene Symbol:CDKN2A
Accession:NM_001195132
Location:EXON

Gene Symbol:CDKN2A
Accession:NM_000077
Location:EXON

Gene Symbol:CDKN2A
Accession:XM_011517676
Location:EXON

Gene Symbol:CDKN2A
Accession:XM_047422598
Location:INTRON

Gene Symbol:CDKN2A
Accession:XM_047422596
Location:INTRON

Gene Symbol:CDKN2A
Accession:NM_058195
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:22804906   PMID:25741868   PMID:28492532   PMID:36243179   PMID:36988593  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000567259 CLINVAR
  RCV000586260 CLINVAR
  RCV000638963 CLINVAR
  RCV003159969 CLINVAR
  RCV003321685 CLINVAR
dbSNP (RS) rs759871071 CLINVAR
MedGen C0024623 CLINVAR
  C0027672 CLINVAR
  C1512419 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CDKN2A CLINVAR
  LOC130001603 CLINVAR
OMIM 600160 CLINVAR
  613659 CLINVAR
SNOMED CT 363349007 CLINVAR
  699346009 CLINVAR